[Noninvasive diagnostic imaging in pediatric skin lesions]. / Nichtinvasive bildgebende Diagnostik bei Hauterkrankungen im Kindesalter.

Optical coherence tomography (OCT) and reflectance confocal laser microscopy (RCM) allow noninvasive imaging diagnostics of the skin. Since the indication for a biopsy in children is generally made cautiously, OCT and KLM can be helpful in the clarification of pediatric skin lesions. In addition, biopsies only represent a snapshot of a small area of the skin, while noninvasive methods allow several locations to be examined over time, so that dynamic changes and the course of therapy can also be determined. In pediatric dermatology, these diagnostic methods are particularly suitable for the clarification of atypical pigment lesions, for infectious dermatoses such as scabies or tinea, and for the diagnosis of inflammatory and degenerative dermatoses.

[Differential diagnosis of common nail disorders in childhood]. / Differenzialdiagnose häufiger Nagelveränderungen im Kindesalter.

BACKGROUND: Correct diagnosis of nail changes in childhood may be challenging. Knowing the anatomy of the nail apparatus and some pathophysiologic principles helps to categorize nail disorders correctly. OBJECTIVES: This article gives a structured overview of nail disorders in childhood, thus, facilitating correct diagnosis of nail abnormalities in childhood. MATERIALS AND METHODS: A review of literature and our own experience are presented. RESULTS: In the first part we present fundamental anatomical characteristics of the nail apparatus based on embryonal development of the nails. In the main part we categorize nail disorders according to clinical presentation: transient nail changes, congenital nail abnormalities, infectious diseases of the nails, nail changes in the context of chronic inflammatory skin diseases, pigmented nail changes, tumors and nail changes due to trauma.

Differentiation- and stress-dependent nuclear cytoplasmic redistribution of myopodin, a novel actin-bundling protein.

We report the cloning and functional characterization of myopodin, the second member of the synaptopodin gene family. Myopodin shows no significant homology to any known protein except synaptopodin. Northern blot analysis resulted in a 3.6-kb transcript for mouse skeletal and heart muscle. Western blots showed an 80-kD signal for skeletal and a 95-kD signal for heart muscle. Myopodin contains one PPXY motif and multiple PXXP motifs. Myopodin colocalizes with alpha-actinin and is found at the Z-disc as shown by immunogold electron microscopy. In myoblasts, myopodin shows preferential nuclear localization. During myotube differentiation, myopodin binds to stress fibers in a punctuated pattern before incorporation into the Z-disc. Myopodin can directly bind to actin and contains a novel actin binding site in the center of the protein. Myopodin has actin-bundling activity as shown by formation of latrunculin-A-sensitive cytosolic actin bundles and nuclear actin loops in transfected cells expressing green fluorescent protein-myopodin. Under stress conditions, myopodin accumulates in the nucleus and is depleted from the cytoplasm. Nuclear export of myopodin is sensitive to leptomycin B, despite the absence of a classical nuclear export sequence. We propose a dual role for myopodin as a structural protein also participating in signaling pathways between the Z-disc and the nucleus.

Mice with altered alpha-actinin-4 expression have distinct morphologic patterns of glomerular disease.

Mutations in ACTN4, encoding the actin-binding protein alpha-actinin-4, cause a form of familial focal segmental glomerulosclerosis. We had developed two strains of transgenic mice with distinct alterations in the expression of alpha-actinin-4. One strain carried a human disease-associated mutation in murine Actn4, whereas the other knockout strain did not express alpha-actinin-4 protein. Most adult homozygous Actn4 mutant and knockout mice developed collapsing glomerulopathy. Homozygous Actn4 mutant mice also exhibited actin and alpha-actinin-4-containing electron-dense cytoplasmic structures, that were present but less prominent in heterozygous Actn4 mutant mice and not consistently seen in wild-type or knockout mice. Heterozygous Actn4 mutant mice did not develop glomerulosclerosis, but did exhibit focal glomerular hypertrophy and mild glomerular ultrastructural changes. The ultrastructural abnormalities seen in heterozygous Actn4 mutant mice suggest low-level glomerular damage, which may increase susceptibility to injury caused by genetic or environmental stressors. Our studies show that different genetic defects in the same protein produce a spectrum of glomerular morphologic lesions depending on the specific combination of normal and/or defective alleles.